{"id":"W2473057142","doi":"10.1093/hmg/ddw223","title":"An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université Laval; Centre hospitalier universitaire de Québec","funders":"Instituto de Salud Carlos III; Cancer Council Tasmania; Cancer Council NSW; Medical Research Council; U.S. Army; Medical Research and Materiel Command; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; National Health and Medical Research Council; Institut National Du Cancer; Cancer Council Victoria; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Stockholms Läns Landsting; National Cancer Institute; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; Ministerio de Economía y Competitividad; Cancer Institute NSW; Fonds Wetenschappelijk Onderzoek; Cancerfonden; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Agence Nationale de la Recherche; Bundesministerium für Bildung und Forschung; National Breast Cancer Foundation; King's College London; National Institute for Health and Care Research; Herlev Hospital; World Health Organization; Cancer Research UK; University of Westminster; Francis Crick Institute; National Institutes of Health; Deutsche Gesetzliche Unfallversicherung; David F. and Margaret T. Grohne Family Foundation; Cancer Council South Australia; Ligue Contre le Cancer; Deutsches Krebsforschungszentrum; Fondation de France; California Department of Public Health; Sundhed og Sygdom, Det Frie Forskningsråd; Associazione Italiana per la Ricerca sul Cancro; Itä-Suomen Yliopisto; Robert Bosch Stiftung; Helsingin ja Uudenmaan Sairaanhoitopiiri; European Commission; Breast Cancer Research Foundation; Memorial Sloan-Kettering Cancer Center","keywords":"Biology; Breast cancer; Genetics; Genome-wide association study; Genotype; Enhancer; Locus (genetics); Case-control study; Single-nucleotide polymorphism; Cancer; Internal medicine; Gene; Medicine; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002597304,0.0005100034,0.00018226,0.0006293467,0.000162008,0.0002646165,0.0002844206,0.0003978193,0.005846154],"category_scores_gemma":[0.000585155,0.0001726009,0.0005790846,0.0003942637,0.0001575744,0.00009528925,0.0003421553,0.0003308055,0.0004668777],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002371251,"about_ca_system_score_gemma":0.0002176397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003716375,"about_ca_topic_score_gemma":0.00515553,"domain_scores_codex":[0.9997472,0.00006925336,0.00001531072,0.00008444976,0.00004952005,0.00003419865],"domain_scores_gemma":[0.9997885,0.00006914586,0.00008148866,0.000025216,0.0000110307,0.00002462337],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002030109,0.0001898841,0.1152536,0.0002194869,0.0007351233,0.002764818,0.0002992637,0.0008278869,0.8510906,0.001326668,0.001430688,0.02383189],"study_design_scores_gemma":[0.0002311176,0.0005312859,0.9080431,0.00005886217,0.0006160575,0.004357739,0.0001273764,0.002708042,0.07493297,0.0007054154,0.007649661,0.00003838206],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883105,0.001576657,0.006403429,0.0002904631,0.00008599857,0.00002829661,0.00137433,0.0001716397,0.001758725],"genre_scores_gemma":[0.9951051,0.0002889574,0.002286716,0.0001373118,0.00002015076,0.00002029873,0.0007851509,0.00001754031,0.001338781],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005846154,"threshold_uncertainty_score":0.0195573,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005064336638778128,"score_gpt":0.2460550359894765,"score_spread":0.2409906993506984,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}